This mutation was identified in a screen of progeny of ENU-treated mice for aberrant signal transduction through toll-like receptors (TLR). It substitutes G for A in the 9th of 11 exons, replacing a highly-conserved histidine with a positively-charged arginine at amino acid 412 (H412R), which resides in the ninth of 12 predicted transmembrane domains. (J:86521, J:105484) Additional incidental mutations were detected in sequencing for the causative mutation, Unc93b13d, and may be present in stocks carrying this mutation.

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6J
Chemically induced
Single point
Recessive
1
2
72

Phenotypes

Legend:
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes:
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Phenotypes

References Literature

Title
PMID
Journal
Year
IF
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